Associate Clinical Variant Scientist
Current- Analyzed variant specific information and case level data to determine pathogenicity of detected variants using published scientific literature, internal data, and publicly available databases
- Inspected clinical and genetic information across targeted sequencing, next generation sequencing, whole exome sequencing, and whole genome sequencing platforms with particular focus in genes associated with.
- Conducted SQL-based data pulls and developed visuals to improve company performance via data driven decision making as part of the Assay Care team
- Supported the training program by cross-checking workflows and providing feedback to trainees